Document Detail


Antenatally diagnosed thanatophoric dysplasia.
MedLine Citation:
PMID:  6763446     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
A case of antenatally diagnosed thanatophoric dysplasia is described. Other syndromes accompanied by chondrodysplastic tetramicromelia were excluded and diagnosis was based on the narrow thorax, secondary pulmonary hypoplasia and macrocephaly detected by ultrasound and on radiological findings of disturbed bone formation. At the mother's request labour was induced and radiological, anatomic and histological examination of the newborn confirmed the prenatal diagnosis. On basis of the literature, the possible aetiology of the disease is discussed and autosomal recessive heredity is suggested. Attention is focussed on the significant hydramnios which led to the suspicion of fetal malformation. The importance in pregnancy of routine ultrasound screening is emphasized, since such malformations can be detected as early as in midtrimester pregnancy.
Authors:
Z Tóth; J Vachter; G Szeifert; Z Nemes; K Csécsei; O Török; A Harsányi; Z Papp
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Acta paediatrica Academiae Scientiarum Hungaricae     Volume:  23     ISSN:  0001-6527     ISO Abbreviation:  Acta Paediatr Acad Sci Hung     Publication Date:  1982  
Date Detail:
Created Date:  1983-06-10     Completed Date:  1983-06-10     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0372634     Medline TA:  Acta Paediatr Acad Sci Hung     Country:  HUNGARY    
Other Details:
Languages:  eng     Pagination:  423-30     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / diagnosis
Adult
Amniocentesis
Dwarfism / diagnosis*
Female
Humans
Infant, Newborn
Limb Deformities, Congenital
Male
Polyhydramnios / diagnosis
Pregnancy
Prenatal Diagnosis / methods*
Syndrome
Thorax / abnormalities
Ultrasonography*

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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